Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.G314S

NKX2-1

495 papers

RefSeq Summary

This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific ge...

Pfam Domains

Homeodomainaa 162–218UCSCHomeodomain
Homeodomainaa 162–218UCSCHomeodomain

Gene Aliases

HGNC Name

NK2 homeobox 1

HGNC Previous Symbols

NKX2A; BCH; TITF1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001079668.3
p.G314S
c.940G>A
Surrounding Variants
1 paper
NM_001079668.3
p.A316T
c.946G>A
1 paper
NM_001079668.3
p.A316insFs
c.947_948insC
2 papers
NM_001079668.3
p.Q317fs
c.949_950fs
1 paper
NM_001079668.3
p.Q317*
c.949C>T
1 paper
NM_001079668.3
p.Q317R
c.950A>G
4 papers
NM_003317.4
p.Q287insFs
c.859_860insC
NM_001079668.3
p.Q317insFs
c.859dupC
1 paper
NM_001079668.3
p.Q317fs
c.949_950fs
1 paper
NM_001079668.3
p.A309delFs
c.927delG
1 paper
NM_001079668.3
p.G308insFs
c.923_924dupGC
1 paper
NM_001079668.3
p.Q318fs
c.952_953fs
1 paper
NM_001079668.3
p.A316_Q318Fs
c.948_954delinsAGCACFs
1 paper
NM_001079668.3
p.A309S
c.925G>T
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